Canonical Allele Identifier: CA365762790

Gene: PEX7

Linked Data

• gnomAD v4: 6-136866627-G-A
• MyVariant Identifiers: chr6:g.137187765G>A (hg19) ; chr6:g.136866627G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866627G>A , CM000668.2:g.136866627G>A	GRCh38
NC_000006.11:g.137187765G>A , CM000668.1:g.137187765G>A	GRCh37
NC_000006.10:g.137229458G>A	NCBI36
NG_008462.1:g.49048G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.527G>A MANE Select	ENSP00000315680.3:p.Gly176Asp
ENST00000541292.6:c.527G>A	ENSP00000441004.1:p.Gly176Asp
ENST00000678002.1:c.215G>A
ENST00000678557.1:c.413G>A	ENSP00000502962.1:p.Gly138Asp
ENST00000678593.1:c.532G>A	ENSP00000503841.1:n.532G>A
ENST00000679286.1:c.407G>A	ENSP00000503168.1:p.Gly136Asp
ENST00000318471.4:c.527G>A	ENSP00000315680.3:p.Gly176Asp
ENST00000541292.5:c.527G>A	ENSP00000441004.1:p.Gly176Asp
NM_000288.3:c.527G>A	NP_000279.1:p.Gly176Asp
XM_005267019.3:c.413G>A	XP_005267076.1:p.Gly138Asp
XM_006715502.1:c.340-3263G>A	XP_006715565.1:n.340-3263G>A
XM_011535900.1:c.526+20446G>A	XP_011534202.1:n.526+20446G>A
XM_005267019.4:c.413G>A	XP_005267076.1:p.Gly138Asp
XM_006715502.2:c.340-3263G>A	XP_006715565.1:n.340-3263G>A
XM_017010934.2:c.526+20446G>A	XP_016866423.1:n.526+20446G>A
NM_000288.4:c.527G>A MANE Select	NP_000279.1:p.Gly176Asp